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Gaucher’s Disease: Clinical Features and Indications for Splenectomy

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Abstract

GAUCHER’S disease is a rare familial disease characterized by the accumulation of the cerebroside, kerasin, in the cells of the reticuloendothelial system. It is classified with Niemann-Pick’s and Hand-Schüller-Christian’s diseases as a disorder of lipoid storage. The conspicuous clinical feature is extreme splenomegaly with minimal constitutional symptoms, and the diagnosis is established by finding the characteristic Gaucher’s cells in the marrow aspirate. Since these cells may be easily overlooked, the marrow examination must be carefully conducted with cognizance of the possibility of their existence. The purpose of this presentation is to describe the clinical features in five cases, selected for their illustrative value, and to discuss the indications for splenectomy.

CASE REPORTS

Case 1. A seven year old Jewish girl was referred to the Clinic in November 1949 because of splenomegaly and hepatomegaly observed during a routine examination one year previously. The child had been a full-term infant and had had the usual childhood diseases. The parents and two siblings were healthy. Extensive studies including marrow aspiration had been performed in 1948, and the results had been reported to be normal with the exception-of a mild anemia.

Physical examination on admission disclosed an alert and active child with minimal physical retardation. There was no significant pallor. The spleen was firm and descended to the umbilicus. The liver was 2 cm. below the costal margin. Peripheral lymphadenopathy was absent.

The hemoglobin content of the blood was 13 Gm. per 100 cc. (Haden-Hauser). The erythrocyte count was 4,790,000 per cu. mm. The . . .


 

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